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Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome

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Abstract

Background

Polycystic ovary syndrome (PCOS), whose genetic basis is not completely well understood, is the most common endocrine disorder in women and it typically develops during adolescence. The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and PCOS in adolescent girls.

Methods

DNA samples from forty-four adolescent girls with PCOS and 50 healthy controls were analyzed by PCR-RFLP and direct DNA sequencing to determine the genotypic frequency of 17 different polymorphic loci on the FSHR (A307T, N680S), CYP17 (−34 T/C), CYP1A1 (T6235C), CAPN10 (44, 43, 19, 63), INSR (exon 17 C/T), SERPINE1 (4G/5G) genes. Genotyping of exon 12 (six polymorphisms) and intron 12 (one polymorphism) of INSR gene by direct DNA sequencing was performed for the first time in this study.

Results

No significant differences were observed in the genotype and allele distributions of above mentioned polymorphisms between cases and control groups.

Conclusion

Our data does not support an association between SNPs of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and susceptibility to PCOS or related traits in Turkish adolescent girls.

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Acknowledgements

This study has been supported by the Gazi University Research Fund, with the project code number 01/2006-05.

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Authors and Affiliations

  1. Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, 6500, Ankara, Turkey

    Tugba Unsal, Ece Konac, Akin Yilmaz, Hacer Ilke Onen & Adnan Menevse

  2. Department of Pediatric Endocrinology, Faculty of Medicine, Gazi University, Besevler, Ankara, Turkey

    Ediz Yesilkaya, Aysun Bideci & Peyami Cinaz

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  1. Tugba Unsal
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  2. Ece Konac
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  3. Ediz Yesilkaya
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Correspondence to Ece Konac.

Appendix

Appendix

Supporting document

Gene structure and linkage disequilibrium plot for CAPN10. The locations of the genotyped SNPs (UCSNP44, 43, 19 and 63) relative to the introns are indicated. The linkage disequilibrium plot at the bottom displays D' values (percent) for each pair of SNPs in the box at the intersection of the diagonals from each SNP.

figure a

Pair wise linkage disequilibrium between the SNPs were carried out using Haploview version 4.0 (http://www.broad.mit.edu/mpg/haploview). However, CAPN10 UCSNP44 was not in linkage disequilibrium with UCSNP 43 and UCSNP63. In addition, CAPN10 UCSNP43 was not in linkage disequilibrium with UCSNP 44 and UCSNP63. Therefore, neither conducting a haplotype analyses nor calculating potential associations among these four different polymorphisms of CAPN10 gene is necessary.

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Unsal, T., Konac, E., Yesilkaya, E. et al. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J Assist Reprod Genet 26, 205–216 (2009). https://doi.org/10.1007/s10815-009-9308-8

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